A newly identified chromosomal microdeletion and an N-box mutation of the AChRε gene cause a congenital myasthenic syndrome

Brain

Volumn 125, Issue 5, 2002, Pages 1005-1013

  Abicht, Angela ^a   Stucka, Rolf ^a   Schmidt, Carolin ^a   Briguet, Alexandre ^b   Höpfner, Sebastian ^a   Song, In Ho ^a   Pongratz, Dieter ^a   Müller Felber, Wolfgang ^a   Ruegg, Markus A ^b   Lochmuller, Hanns ^a,c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF BASEL   (Switzerland)

^c Genzentrum   (Germany)

Author keywords

Acetylcholine receptor; Congenital myasthenic syndrome; Epsilon subunit; Gene deletion; Promoter mutation

Indexed keywords

AGRIN; AZATHIOPRINE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; IMMUNOSUPPRESSIVE AGENT; MESSENGER RNA; PYRIDOSTIGMINE; RECEPTOR SUBUNIT;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; DNA STRUCTURE; EATON LAMBERT SYNDROME; EXON; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MUSCLE BIOPSY; N BOX; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REGULATOR GENE; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 0036237543     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awf095     Document Type: Article

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